Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000360160 [[15016018, 15016325], [15016845, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15026561], [15026795, 15026894], [15026978, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15030451]] [[15016847, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15026561], [15026795, 15026894], [15026978, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15030034]]
ENST00000454054 [[15016028, 15016325], [15016768, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765]] [[15016847, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765]]
ENST00000336079 [[15016741, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15026561], [15026795, 15026894], [15026978, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15032390]] [[15016847, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15026561], [15026795, 15026894], [15026978, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15030034]]
ENST00000493363 [[15016759, 15016892], [15019447, 15019505], [15021270, 15021607]] None
ENST00000440554 [[15017648, 15017726], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15026561]] [[15017690, 15017726], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15026561]]
ENST00000469101 [[15024551, 15024974], [15025629, 15025713]] None
ENST00000472510 [[15024874, 15024974], [15025629, 15025765], [15026475, 15026811]] None
ENST00000463199 [[15024919, 15024974], [15025629, 15025765], [15026475, 15026561], [15026795, 15027139]] None
ENST00000495478 [[15027407, 15027686], [15027794, 15027939], [15028172, 15028265]] None
NM_001122665 [[15015909, 15016325], [15016845, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15026561], [15026795, 15026894], [15026978, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15032390]] [[15016847, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15026561], [15026795, 15026894], [15026978, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15030034]]
NR_136719 [[15016696, 15016892], [15019447, 15019505], [15021270, 15021318], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15032390]] None
NM_001324195 [[15016696, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15026561], [15026795, 15026894], [15026978, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028887, 15028972], [15029314, 15029454], [15029954, 15032390]] [[15016847, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15026561], [15026795, 15026894], [15026978, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028887, 15028972], [15029314, 15029454], [15029954, 15030034]]
NM_004660 [[15016696, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15026561], [15026795, 15026894], [15026978, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15032390]] [[15016847, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15026561], [15026795, 15026894], [15026978, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15030034]]
NR_136720 [[15016696, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028887, 15028972], [15029314, 15029454], [15029954, 15032390]] None
NR_136716 [[15016696, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15032390]] None
NR_136717 [[15016696, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024974], [15025629, 15025765], [15026475, 15026561], [15026795, 15026894], [15026978, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15032390]] None
NR_136718 [[15016696, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024974], [15025629, 15025765], [15026475, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15032390]] None
NR_136721 [[15016768, 15016892], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15026561], [15026795, 15026894], [15026995, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15032390]] None
NM_001302552 [[15017615, 15017726], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15026561], [15026795, 15026894], [15026978, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15032390]] [[15017690, 15017726], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15026561], [15026795, 15026894], [15026978, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15030034]]
NR_136724 [[15017615, 15017726], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024794], [15024874, 15024974], [15025629, 15025765], [15026475, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15032390]] None
NR_136722 [[15017615, 15017726], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024974], [15025629, 15025765], [15026475, 15026561], [15026795, 15026894], [15026978, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15032390]] None
NR_136723 [[15017615, 15017726], [15019447, 15019505], [15021270, 15021318], [15023750, 15023880], [15024638, 15024974], [15025629, 15025765], [15026475, 15027139], [15027541, 15027686], [15027794, 15027939], [15028172, 15028354], [15028428, 15028546], [15028818, 15028972], [15029314, 15029454], [15029954, 15032390]] None
Promoter
Chrom Start End Description
chrY 15016013 15016024 CAGE_peak_5_at_DDX3Y_5end
chrY 15016725 15016769 CAGE_peak_2_at_DDX3Y_5end
chrY 15016771 15016801 CAGE_peak_1_at_DDX3Y_5end
chrY 15017336 15017348 CAGE_peak_6_at_DDX3Y_5end
chrY 15017609 15017620 CAGE_peak_4_at_DDX3Y_5end
chrY 15017624 15017666 CAGE_peak_3_at_DDX3Y_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chrY GH0YI012904 12904031 12906868 0.81 [{'connected_gene': 'DDX3Y', 'score': 550.77}, {'connected_gene': 'PIR35730', 'score': 0.44}]
chrY GH0YI012919 12919781 12920059 0.4 [{'connected_gene': 'PIR35730', 'score': 0.77}, {'connected_gene': 'DDX3Y', 'score': 0.37}, {'connected_gene': 'CASKP1', 'score': 0.31}]